Phenotypic expression of Hb F in common high Hb F determinants in Thailand: roles of α‐thalassemia, 5′ δ‐globin BCL11A binding region and 3′ β‐globin enhancer

Abstract

Comparison of phenotypes, genotypes, and the deletion breakpoints of these Thai high Hb F determinants indicates that differences in Hb F expression are correlated with the existence of α-thalassemia, the loss of BCL11A binding region located 5' to the δ-globin gene and the 3' β-globin enhancer, which confirms their important roles in fetal Hb expression.

Diagnosis of common hemoglobinopathies among South East Asian population using capillary isoelectric focusing system

“…Accurate diagnosis of these α‐thalassemias usually requires DNA analysis. As for that described in the CE Hb analyzer (Sebia) , normal Hb A 2 levels (2.15 ± 0.32%) were observed for those with HPFH and δβ 0 ‐thalassemia traits when analyzed using the V8 cIEF analyzer.…”

Co‐inheritance of α0‐thalassemia elevates Hb A2 level in homozygous Hb E: Diagnostic implications

“…22,23 Therefore, change in Hb F level is not a good marker of the co-inheritance of α-thalassemia in this disorder. 22,23 Therefore, change in Hb F level is not a good marker of the co-inheritance of α-thalassemia in this disorder.…”

“…23 Nonetheless, co-inheritance of α 0 -thalassemia in homozygous Hb E is important as it can alleviate clinical phenotype of Hb E-related diseases especially Hb Eβ-thalassemia. 23 Nonetheless, co-inheritance of α 0 -thalassemia in homozygous Hb E is important as it can alleviate clinical phenotype of Hb E-related diseases especially Hb Eβ-thalassemia.…”

Phenotype and Genotype in a Cohort of 312 Adult Patients with Nontransfusion-Dependent Thalassemia in Northeast Thailand

“…The −158 Xmn I G γ-globin polymorphism was examined by PCR amplification of G γ-globin gene promoter using the primers γ4 (5′GGCCTA AAA CCA CAG AGA GT 3′) and γ5 (5′CCA GAA GCG AGT GTG TGGAA 3′) followed by Xmn I digestion [8]. Screening for triplicated α-globin gene haplotype (the ααα anti3.7 ) and DNA deletions causing (δβ)-thalassemia and hereditary persistence of fetal Hb found in Thailand was done using multiplex-gap PCR as described [9,10]. …”